6154[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	BORCS6, CHD3 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 1320559	NC_000017.11:g.8377343TCT[2]	RPL26	Microsatellite	not provided	GLikely benign
Select item 417529	NC_000017.10:g.(?_8280834)_(8283254_?)dup	RPL26	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 2088276	NM_000987.5(RPL26):c.436T>G (p.Ter146Glu)	RPL26	Single nucleotide variant (stop lost)	Diamond-Blackfan anemia	GUncertain significance
Select item 2766280	NM_000987.5(RPL26):c.426G>A (p.Lys142=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2974888	NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)	RPL26 (T139I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2711429	NM_000987.5(RPL26):c.408G>A (p.Lys136=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2730413	NM_000987.5(RPL26):c.388A>G (p.Lys130Glu)	RPL26 (K130E)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1110457	NM_000987.5(RPL26):c.384A>T (p.Val128=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2162397	NM_000987.5(RPL26):c.382G>A (p.Val128Ile)	RPL26 (V128I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2186789	NM_000987.5(RPL26):c.377G>C (p.Arg126Pro)	RPL26 (R126P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 945300	NM_000987.5(RPL26):c.377G>A (p.Arg126His)	RPL26 (R126H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1910622	NM_000987.5(RPL26):c.371A>C (p.Lys124Thr)	RPL26 (K124T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2198020	NM_000987.5(RPL26):c.369C>T (p.Ala123=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1358979	NM_000987.5(RPL26):c.361C>T (p.Arg121Trp)	RPL26 (R121W)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1024358	NM_000987.5(RPL26):c.359A>G (p.Glu120Gly)	RPL26 (E120G)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2148845	NM_000987.5(RPL26):c.357C>G (p.Leu119=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1945167	NM_000987.5(RPL26):c.352A>T (p.Ile118Phe)	RPL26 (I118F)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2194855	NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)	RPL26 (K117Q)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 704376	NM_000987.5(RPL26):c.342C>T (p.Asp114=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1339822	NM_000987.5(RPL26):c.341del (p.Asp114fs)	RPL26 (D114fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 11	Gnot provided
Select item 2987313	NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)	RPL26 (L111P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1164657	NM_000987.5(RPL26):c.327A>G (p.Leu109=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 2080746	NM_000987.5(RPL26):c.313G>A (p.Val105Ile)	RPL26 (V105I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2157610	NM_000987.5(RPL26):c.310-16dup	RPL26	Duplication (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 1277419	NM_000987.5(RPL26):c.310-49T>G	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2178600	NM_000987.5(RPL26):c.309+18T>C	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2841018	NM_000987.5(RPL26):c.309+13_309+14delinsCT	RPL26	Indel (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1933018	NM_000987.5(RPL26):c.309+13G>T	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2892317	NM_000987.5(RPL26):c.309+7G>T	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1985934	NM_000987.5(RPL26):c.300C>T (p.His100=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1614534	NM_000987.5(RPL26):c.288C>T (p.His96=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2198523	NM_000987.5(RPL26):c.286C>T (p.His96Tyr)	RPL26 (H96Y)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2421526	NM_000987.5(RPL26):c.276C>A (p.Gly92=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 238202	NM_000987.5(RPL26):c.259C>T (p.Arg87Trp)	RPL26 (R87W)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 701695	NM_000987.5(RPL26):c.255G>A (p.Val85=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2718492	NM_000987.5(RPL26):c.251G>C (p.Arg84Pro)	RPL26 (R84P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2881443	NM_000987.5(RPL26):c.243C>T (p.Tyr81=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2965432	NM_000987.5(RPL26):c.234T>C (p.Tyr78=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2074690	NM_000987.5(RPL26):c.180A>G (p.Gly60=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1037319	NM_000987.5(RPL26):c.169-5C>G	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1967500	NM_000987.5(RPL26):c.169-16T>C	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 2912361	NM_000987.5(RPL26):c.169-19C>T	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1271802	NM_000987.5(RPL26):c.169-125G>C	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257185	NM_000987.5(RPL26):c.169-232C>G	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317724	NM_000987.5(RPL26):c.168+261A>G	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292754	NM_000987.5(RPL26):c.168+210_168+211del	RPL26	Deletion (intron variant)	not provided	GBenign
Select item 1246531	NM_000987.5(RPL26):c.168+211del	RPL26	Deletion (intron variant)	not provided	GBenign
Select item 1327308	NM_000987.5(RPL26):c.168+188A>T	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285769	NM_000987.5(RPL26):c.168+63A>G	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1958837	NM_000987.5(RPL26):c.168+18T>G	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1634626	NM_000987.5(RPL26):c.168+17G>A	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 2139741	NM_000987.5(RPL26):c.168+15T>G	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2725781	NM_000987.5(RPL26):c.168+11C>G	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 737655	NM_000987.5(RPL26):c.168+9C>G	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500079	NM_000987.5(RPL26):c.168+6T>G	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 11	GUncertain significance
Select item 2819887	NM_000987.5(RPL26):c.168+4T>G	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 653581	NM_000987.5(RPL26):c.153G>A (p.Lys51=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1431925	NM_000987.5(RPL26):c.145A>G (p.Ile49Val)	RPL26 (I49V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1374020	NM_000987.5(RPL26):c.139A>G (p.Met47Val)	RPL26 (M47V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2049803	NM_000987.5(RPL26):c.133C>G (p.Arg45Gly)	RPL26 (R45G)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1469771	NM_000987.5(RPL26):c.130G>T (p.Val44Leu)	RPL26 (V44L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1116412	NM_000987.5(RPL26):c.128A>G (p.Asn43Ser)	RPL26 (N43S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GLikely benign
Select item 39740	NM_000987.5(RPL26):c.120_121del (p.Lys41fs)	RPL26 (K41fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 11	GPathogenic
Select item 2090607	NM_000987.5(RPL26):c.107A>T (p.Lys36Ile)	RPL26 (K36I)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2052391	NM_000987.5(RPL26):c.105C>G (p.Ser35=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1346961	NM_000987.5(RPL26):c.97C>T (p.Pro33Ser)	RPL26 (P33S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 463369	NM_000987.5(RPL26):c.96C>T (p.Ser32=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 11 +1 more	GBenign/Likely benign
Select item 2627100	NM_000987.5(RPL26):c.87del (p.Met30fs)	RPL26 (M30fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 11	GPathogenic
Select item 2114552	NM_000987.5(RPL26):c.83A>G (p.Lys28Arg)	RPL26 (K28R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1758185	NM_000987.5(RPL26):c.72C>T (p.His24=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2199705	NM_000987.5(RPL26):c.58A>G (p.Asn20Asp)	RPL26 (N20D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 3021039	NM_000987.5(RPL26):c.45C>T (p.Arg15=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2786069	NM_000987.5(RPL26):c.44G>T (p.Arg15Leu)	RPL26 (R15L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2196695	NM_000987.5(RPL26):c.29A>C (p.Asp10Ala)	RPL26 (D10A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1083457	NM_000987.5(RPL26):c.24T>C (p.Thr8=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2746301	NM_000987.5(RPL26):c.15C>G (p.Pro5=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2724729	NM_000987.5(RPL26):c.15C>T (p.Pro5=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2627099	NM_000987.5(RPL26):c.-5-2A>G	RPL26	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia 11	GLikely pathogenic
Select item 514617	NM_000987.5(RPL26):c.-5-16_-5-15del	RPL26	Deletion (intron variant)	Diamond-Blackfan anemia 11 +1 more	GBenign/Likely benign
Select item 1706867	NM_000987.5(RPL26):c.-5-164C>T	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706894	NM_000987.5(RPL26):c.-5-204A>G	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2627098	NM_000987.5(RPL26):c.-6+3_-6+25del	RPL26	Deletion (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 11	GLikely pathogenic
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1460382	NC_000017.10:g.(?_8136214)_(8285628_?)del	ARHGEF15, CTC1 +6 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 1441447	NC_000017.10:g.(?_8131498)_(8285628_?)dup	ARHGEF15, CTC1 +6 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1062439	NC_000017.10:g.(?_8192101)_(8283260_?)dup	ARHGEF15, KRBA2 +4 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 833339	NC_000017.11:g.(?_8228170)_(8382320_?)dup	ARHGEF15, CTC1 +6 more	Duplication	Diamond-Blackfan anemia +1 more	GUncertain significance

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